tuberous sclerosis是什么意思，tuberous sclerosis的意思翻译、用法、同义词、例句

常用词典

结节状硬化（症）；结节性脑硬化

例句

No tuberous sclerosis was ascertained.

结节性硬化症是没有确定。

What if the tuberous sclerosis is guilty?

如果结节性脑硬化的确是凶手?。

There is no cure for tuberous sclerosis complex (TSC).

结节性硬化症尚无法治愈。

Purpose To research the MRI and CT findings of Tuberous Sclerosis.

目的探讨结节性硬化症的颅内影像学征象。

Objective: To discuss the appearance of tuberous sclerosis(TS) on CT.

目的：探讨儿童脑结节性硬化的CT表现。

网络扩展资料

结节性硬化症（Tuberous Sclerosis，TS）是一种罕见的遗传性疾病，属于神经皮肤综合征的一种，主要表现为多器官错构瘤和发育异常。以下为详细解释：

1.定义与别名

英文名：Tuberous Sclerosis Complex（TSC），简称TSC。
别名：Bourneville病、结节性脑硬化。
核心特征：由外胚层、中胚层及内胚层器官发育异常引起，累及皮肤、神经系统、肾脏、心脏等。

2.病因与遗传

遗传方式：常染色体显性遗传，但约2/3患者为自发基因突变。
致病基因：TSC1（9q34）和TSC2（16p13.3）基因突变，分别编码hamartin和tuberin蛋白，两者共同调控细胞生长与增殖。

3.临床表现

三联征（典型但非所有患者均出现）：
- 面部皮脂腺瘤：鼻唇沟周围红色或黄红色丘疹，对称分布。
- 癫痫：约90%患者出现，婴儿期可能表现为婴儿痉挛症。
- 智力障碍：程度不一，部分患者仅轻度认知受损。
其他症状：
- 皮肤表现：鲛鱼皮斑（腰背部）、甲周纤维瘤、色素脱失斑。
- 器官受累：肾脏血管肌脂瘤、心脏横纹肌瘤、肺淋巴管肌瘤病等。

4.诊断与治疗

诊断：结合临床特征、影像学（如脑部MRI显示皮层结节）及基因检测。
治疗：
- 对症治疗：抗癫痫药物控制发作，手术切除肿瘤（如肾血管肌脂瘤）。
- 靶向药物：mTOR抑制剂（如依维莫司）用于抑制肿瘤生长。

5.流行病学

发病率约为1/6000至1/10,000，男女比例约2:1。

注：发音为/tjuːˈbɜːrəs sklɪˈroʊsɪs/（英语）。如需更完整信息，可参考医学文献或权威机构指南。

网络扩展资料二

Tuberous sclerosis is a rare genetic disorder that causes benign tumors to grow on the brain, heart, kidneys, and other organs. Here is a detailed explanation of the term.

Definition

Tuberous sclerosis, also known as tuberous sclerosis complex or Bourneville's disease, is a genetic disorder that causes noncancerous (benign) tumors to grow in many parts of the body. The tumors can occur in the brain, kidneys, heart, lungs, eyes, and skin. Tuberous sclerosis affects about one in every 6,000 people worldwide.

Example sentences

She was diagnosed with tuberous sclerosis after experiencing seizures.
Tuberous sclerosis can cause developmental delays in children.
The doctor recommended regular scans to monitor the growth of the tumors in her kidneys.

Usage

Tuberous sclerosis is a medical condition that requires careful management and monitoring. Treatment options may include surgery, medication, or a combination of both. The severity of the symptoms can vary widely, so it's important for patients to receive personalized care from a team of healthcare professionals.

Synonyms

Tuberous sclerosis is also known as tuberous sclerosis complex, Bourneville's disease, or epiloia.

Antonyms

As tuberous sclerosis is a medical condition, it does not have an antonym.

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